[Frontiers in Bioscience S2, 653-676, January 1, 2010]

Genetic polymorphisms in dilated cardiomyopathy

Johann Daniel Stambader, Livia Dorn, Gregor Mikuz, Consolato Sergi

Institute of Pathology, Medical University of Innsbruck, Muellerstrasse 44, A-6020 Innsbruck, Austria

TABLE OF CONTENTS

1. Abstract
2. Introduction
3. Dilated Cardiomyopathy
3.1. Familial and monogenic forms of dilated cardiomyopathy
4. Single nucleotide polymorphisms
5. SNP's List
5.1. Angiotensin I-converting enzyme (ACE) gene
5.2. Angiotensin-II type 1 receptor (AGTR1) gene
5.3. Angiotensinogen (AGT) gene
5.4. Tumor necrosis factor-a (TNF) gene
5.5. Interleukin-4 (IL-4) gene
5.6. Interleukin-10 gene
5.7. Phospholamban (PLN) gene
5.8. Heat Schock Protein A1-like and A1B genes
5.9. Bone morphogenetic protein-10 (BMP10) gene
5.10. Titin/connectin gene
5.11. Human leukocyte antigen (HLA) gene
5.12. Non-HLA gene block consisting of the NFKBIL, ATP6V1G2, BAT1, MICB, and MICA genes within the MHC class III - class I boundary region
5.13. Alpha2C-adrenoceptor gene
5.14. Beta1-adrenoceptor gene
5.15. Beta2-adrenoceptor gene
5.16. Beta myosin heavy chain gene
5.17. Myosin binding protein-C (MyBP-C) gene
5.18. Cardiac troponin I (TNNI3) gene
5.19. Cardiac T troponin (TNNT2) gene
5.20. Alpha-cardiac actin gene
5.21. Alstroem syndrome 1 gene
5.22. Endothelin-1, endothelin-A (ETA) and endothelin-B (ETB) receptor genes
5.23. Ryanodine receptor 2 gene
5.24. Apolipoprotein E (ApoE) gene
5.25. Sodium channel 5A gene
5.26. Cluster of Differentiation 45 gene
5.27. Trypanosoma cruzi mini-exon (ME) gene
5.28. Myotrophin gene
5.29. Vinculin (VCL) gene
5.30. Metavinculin (meta-VCL) gene
5.31. Lamin A/C gene
5.32. Coxsackievirus B-adenovirus receptor (CAR) gene
5.33. Adenosine monophosphate deaminase-1 (AMPD1) gene
5.34. Cypher/Z-band alternatively spliced PDZ- motif protein gene
5.35. B-sarcoglycan (SGCB) and d-sarcoglycan (SGCD) genes
5.36. Multidrug resistance protein 5 (MRP5/ABCC5) gene
5.37. Polyadenylate-binding protein 2 (PABP2) gene
5.38. Genes encoding the four major components of the heart calcineurin pathway, PPP3CA, PPP3CB, GATA4, NFATC4
5.39. Aldosterone synthase (CYP11B2) gene
5.40. Dystrophin gene
5.41. Gene for platelet-activating factor acetylhydrolase (PAF-AH).
5.42. Transforming growth factor (TGF)-b1 gene
5.43. G4.5 .(Tafazzin, TAZ) gene
5.44. HS426 (nebulette) gene
5.45. Human cardiotrophin-1 gene (CTF1)
5.46. Desmin gene
5.47. Endothelial nitric oxide synthase (NOS3) gene
5.48. Brain natriuretic peptide (BNP) gene
5.49. Skeletal muscle alpha-actin gene (ACTA1).
5.50. Bradykinin B2 receptor gene.
5.51. Myocyte enhancer factor 2 (MEF2A) gene.
5.52. Chromosome 10 linkage in familial DCM.
5.53. Chromosome X linkage in infantile cardiomyopathy
5.54. Locus on chromosome 6q12-q16 for autosomal dominant DCM
5.55. Tafazzin (TAZ) gene in Irish wolfhounds
5.56. A-dystrobrevin
5.57. Manganese superoxide dismutase gene (SOD2)
5.58. Mitochondrial DNA abnormalities
5.59. Alcohol and acetaldehyde dehydrogenases (ADHs and ALDHs) genes
5.60. Cytochrome P-450 2E1 (CYP2E1)
6. Final Considerations
7. References

1. ABSTRACT

Dilated cardiomypathies (DCM) are characterized by dilatation and pump dysfunction of the heart. DCM has an incidence of 6/100.000 people a year contributing to a considerable number of cases of heart failure. Although etiology and pathogenesis are known to be multifactorial, they remain mostly unidentified. Recent research identified patients affected with DCM with altered gene products. These alterations can roughly be grouped into causative genes, mostly coding for cytoskeletal proteins. Other genes seem to be activated after the disease onset and are able to influence the clinical course. In this study we systematically analyzed the role of genetic polymorphisms, based on peer-reviewed articles, published in scientific journals. A total of 97 original studies and a selected number of 60 genes, that seem to be related to DCM, have been reviewed.